Distinct disease mechanisms in peripheral neuropathies due to altered peripheral myelin protein 22 gene dosage or a Pmp22 point mutation

Distinct disease mechanisms in peripheral neuropathies due to altered peripheral myelin protein 22 gene dosage or a Pmp22 point mutation

Point mutations affecting PMP22 can cause hereditary demyelinating and dysmyelinating peripheral neuropathies. In addition, duplication and deletion of PMP22 are associated with Charcot–Marie–Tooth disease Type 1A (CMT1A) and Hereditary Neuropathy with Liability to Pressure Palsy (HNPP), respectivel...

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Bibliographic Details
Main Authors: Guya Giambonini-Brugnoli, Johanna Buchstaller, Lukas Sommer, Ueli Suter, Ned Mantei
Format: Article
Language:English
Published: Elsevier 2005-04-01
Series:Neurobiology of Disease
Subjects:
Pmp22
Myelin
Trembler
Microarrays
E2F
Heat shock proteins 1A and 1B
Online Access:http://www.sciencedirect.com/science/article/pii/S0969996104002724

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http://www.sciencedirect.com/science/article/pii/S0969996104002724

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